Výsledky vyhledávání - "Bobbilynn Hawkins-Lee"

Construction of a Physical and Transcript Map for a 1-Mb Genomic Region Containing the Urofacial (Ochoa) Syndrome Gene on 10q23–q24 and Localization of the Disease Gene within Two Overlapping BAC Clones (<360 kb)

Autor: Pedro E. Cruz, Bernardo Ochoa, Yi Qun Huang, Cong-Yi Wang, Abdoreza Davoodi-Semiromi, Bobbilynn Hawkins-Lee, Jin-Xiong She, Jing Da Shi

Publikováno v: Genomics. 60:12-19

Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expression and urinary abnormalities. Previously, we mapped the UFS gene to chromosome 10q23-q24 and narrowed the interval to one YAC clone of 1410 kb. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::699c257296f16d1449baf9e58d446863
https://doi.org/10.1006/geno.1999.5908

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Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

Autor: Bobbilynn Hawkins-Lee, Michele P. Marron, Yi-Qun Huang, Qing-Guo Ruan, Jing-Da Shi, Cong-Yi Wang, Jin-Xiong She, Bernardo Ochoa

Publikováno v: American Journal of Medical Genetics. 84:454-459

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Previously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a235fa25c6b99aebd3a9a4f67ec9a2a
https://doi.org/10.1002/(sici)1096-8628(19990611)84:5<454::aid-ajmg9>3.0.co

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Rectus Fascial Wrap

Autor: Charles E. Flack, Bobbilynn Hawkins-Lee, Herman W. Parramore, Dixon Walker, David J. Lim, Raymond L. Hackett

Publikováno v: The Journal of Urology. :771-774

We describe an operation that increases bladder neck resistance in patients with urinary incontinence. It is a modification of the rectus fascial sling that was designed as an adjunct to augmentation cystoplasty and is used in association with clean

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0fa726bb82899028c1c74c34d29c18
https://doi.org/10.1097/00005392-199508000-00118

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Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Autor: Shu Zhang, Wen Cheng Xiong, Marie-Antoinette Voelckel, Bobbilynn Hawkins-Lee, Jixin Zhong, Junfeng Pang, José A. G. Agúndez, Lin Mei, Ping Yang, Weikuan Gu, Richard B. Fisher, Bernardo Ochoa, Jin-Xiong She, Yushan Zhang, Cong-Yi Wang

Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73132a84847d16947e4cdf83f998474
https://europepmc.org/articles/PMC2896782/

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High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region

Autor: Jing Da Shi, Bernardo Ochoa, Jose M. Moran, Abodoreza Davoodi-Semiromi, Bobbilynn Hawkins-Lee, Cong-Yi Wang, Jin-Xiong She, Yi Qun Huang, José A. G. Agúndez, Ping Yang

Publikováno v: American journal of medical genetics. Part A. (1)

The urofacial (Ochoa) syndrome (UFS) characterized by congenital obstructive uropathy and abnormal facial expression is a rare disorder caused by a single recessive disease gene. Our previous studies using homozygosity mapping have located the UFS ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::713106056feab28524eef519fd8a30f4
https://pubmed.ncbi.nlm.nih.gov/12707951

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